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Article: The roles of PAX6 and SOX2 in myopia: Lessons from the 1958 British Birth Cohort

TitleThe roles of PAX6 and SOX2 in myopia: Lessons from the 1958 British Birth Cohort
Authors
Issue Date2007
PublisherAssociation for Research in Vision and Ophthalmology. The Journal's web site is located at http://www.iovs.org
Citation
Investigative Ophthalmology And Visual Science, 2007, v. 48 n. 10, p. 4421-4425 How to Cite?
AbstractPURPOSE. Myopia is a common complex trait that affects up to 60% of some populations. Its development is influenced by multiple genes and environmental factors. PAX6 and SOX2 are genes with fundamental roles in ocular growth and development, and they have been linked with myopia in a recent linkage study. The authors investigated the roles of PAX6 and SOX2 in common myopia as part of a broader association study of refractive error. METHODS. Five hundred ninety-six persons from the 1958 British Birth Cohort, a nationally representative population, were randomly selected from the outer tertiles of the refractive error (RE) distribution and were genotyped using 25 tagSNPs across PAX6 and 3 tagSNPs across SOX2 and their putative control regions. This experiment had 80% power to exclude either gene contributing more than 10% of the variance of refractive error. RESULTS. All SNPs were in Hardy-Weinberg equilibrium, and the genotyping failure rate was less than 5%. Accounting for multiple testing, no significant association (P < 0.05) was found between any of the SNPs or haplotypes and refractive error. CONCLUSIONS. PAX6 and SOX2 are obvious candidates in RE genetic studies because of their biological roles and prior linkage studies. The present findings strongly suggest refractive error is not directly affected in this population by variants in either gene or by their known promoters/enhancers. The authors suggest that neither PAX6 nor SOX2 should be prioritized in the international search for genetic modifiers of refractive error. Their findings contribute to broader understanding of the pathophysiology of refractive error and highlight the critical role of replication in genetic research on complex disorders. Copyright © Association for Research in Vision and Ophthalmology.
Persistent Identifierhttp://hdl.handle.net/10722/81591
ISSN
2015 Impact Factor: 3.427
2015 SCImago Journal Rankings: 2.008
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorSimpson, CLen_HK
dc.contributor.authorHysi, Pen_HK
dc.contributor.authorBhattacharya, SSen_HK
dc.contributor.authorHammond, CJen_HK
dc.contributor.authorWebster, Aen_HK
dc.contributor.authorPeckham, CSen_HK
dc.contributor.authorSham, PCen_HK
dc.contributor.authorRahi, JSen_HK
dc.date.accessioned2010-09-06T08:19:38Z-
dc.date.available2010-09-06T08:19:38Z-
dc.date.issued2007en_HK
dc.identifier.citationInvestigative Ophthalmology And Visual Science, 2007, v. 48 n. 10, p. 4421-4425en_HK
dc.identifier.issn0146-0404en_HK
dc.identifier.urihttp://hdl.handle.net/10722/81591-
dc.description.abstractPURPOSE. Myopia is a common complex trait that affects up to 60% of some populations. Its development is influenced by multiple genes and environmental factors. PAX6 and SOX2 are genes with fundamental roles in ocular growth and development, and they have been linked with myopia in a recent linkage study. The authors investigated the roles of PAX6 and SOX2 in common myopia as part of a broader association study of refractive error. METHODS. Five hundred ninety-six persons from the 1958 British Birth Cohort, a nationally representative population, were randomly selected from the outer tertiles of the refractive error (RE) distribution and were genotyped using 25 tagSNPs across PAX6 and 3 tagSNPs across SOX2 and their putative control regions. This experiment had 80% power to exclude either gene contributing more than 10% of the variance of refractive error. RESULTS. All SNPs were in Hardy-Weinberg equilibrium, and the genotyping failure rate was less than 5%. Accounting for multiple testing, no significant association (P < 0.05) was found between any of the SNPs or haplotypes and refractive error. CONCLUSIONS. PAX6 and SOX2 are obvious candidates in RE genetic studies because of their biological roles and prior linkage studies. The present findings strongly suggest refractive error is not directly affected in this population by variants in either gene or by their known promoters/enhancers. The authors suggest that neither PAX6 nor SOX2 should be prioritized in the international search for genetic modifiers of refractive error. Their findings contribute to broader understanding of the pathophysiology of refractive error and highlight the critical role of replication in genetic research on complex disorders. Copyright © Association for Research in Vision and Ophthalmology.en_HK
dc.languageengen_HK
dc.publisherAssociation for Research in Vision and Ophthalmology. The Journal's web site is located at http://www.iovs.orgen_HK
dc.relation.ispartofInvestigative Ophthalmology and Visual Scienceen_HK
dc.titleThe roles of PAX6 and SOX2 in myopia: Lessons from the 1958 British Birth Cohorten_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0146-0404&volume=48&spage=4421&epage=4425&date=2007&atitle=The+roles+of+PAX6+and+SOX2+in+myopia:+Lessons+from+the+1958+British+birth+cohort.en_HK
dc.identifier.emailSham, PC: pcsham@hku.hken_HK
dc.identifier.authoritySham, PC=rp00459en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1167/iovs.07-0231en_HK
dc.identifier.pmid17898260-
dc.identifier.scopuseid_2-s2.0-35748941672en_HK
dc.identifier.hkuros151782en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-35748941672&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume48en_HK
dc.identifier.issue10en_HK
dc.identifier.spage4421en_HK
dc.identifier.epage4425en_HK
dc.identifier.isiWOS:000249757600007-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridSimpson, CL=12789397500en_HK
dc.identifier.scopusauthoridHysi, P=18133899000en_HK
dc.identifier.scopusauthoridBhattacharya, SS=7404284762en_HK
dc.identifier.scopusauthoridHammond, CJ=7102559046en_HK
dc.identifier.scopusauthoridWebster, A=7202946936en_HK
dc.identifier.scopusauthoridPeckham, CS=35234699600en_HK
dc.identifier.scopusauthoridSham, PC=34573429300en_HK
dc.identifier.scopusauthoridRahi, JS=7003837201en_HK

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